Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"ACHM"”.
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Structural retinal and visual cortex phenotyping and gene therapy in achromatopsia
Achromatopsia (ACHM) is a rare inherited retinal disorder affecting cone photoreceptor function. Patients with ACHM display reduced visual acuity, colour vision deficiency, photoaversion and nystagmus as core features of this disease. Variants in two genes, CNGA3 and CNGB3 are responsible for 70% …
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A Comprehensive Framework for Adaptive Optics Scanning Light Ophthalmoscope Image Analysis
… diseases, including achromatopsia (ACHM), require the visualization of microscopic structures in the eye. The development of adaptive optics ophthalmic imaging systems has made high resolution visualization of ocular microstructures possible. These systems include the confocal and …
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Implementación de técnicas de secuenciación masiva para el desarrollo de nuevos algoritmos diagnósticos y bioinformáticos en distrófias hereditarias de retina
… en la visión de los colores o acromatopsia, AVC/ACHM; distrofia macular, DM; Retinosquisis, RS; o enfermedad de Stargardt, STGD) o causan la afectación generalizada de ambos tipos de fotorreceptores (ej: Amaurosis congénita de Leber, ACL) (Berger, y cols., 2010; Hamel, 2006). Además, aunque en la …